One hundred and thirty-four families or individuals with auditory-pigmentary syndromes such as Waardenburg syndrome (WS) or probable neurocristopathies were screened for mutations in the PAX3 and MITF genes. PAX3 mutations were found in 20/25 families with definite Type 1 WS and 1/2 with Type 3 WS, but in none of 23 with definite Type 2 WS or 36 with other neurocristopathies. The PAX3 mutations included substitutions of conserved amino acids in the paired domain or the homeodomain, splice-site mutations, nonsense mutations and frame-shifting insertions or deletions. No phenotype-genotype correlations were noted within WS1 families. With MITF, mutations likely to affect protein function were found in seven families, five of which had definite Type 2 WS. We conclude that Type 1 and Type 3 WS are allelic and are normally caused by loss of function mutations in PAX3; that Type 2 WS is heterogeneous, with about 20% of cases caused by mutations in MITF, and that individuals with auditory, pigmentary or neural crest syndromes which do not fit stringent definitions of Waardenburg syndrome are unlikely to have mutations in either the PAX3 or MITF genes. The molecular pathology of MITF/microphthalmia mutations appears to be different in humans and mice, with gene dosage having more significant effects in humans than in the mouse.

Aims The aim of this study was to compare the accuracy of incisional and punch biopsy techniques in obtaining correct histological diagnosis of periorbital eyelid tumours. The technique of punch biopsy is presented and described in detail. Methods A retrospective analysis was made of 20 consecutive incisional biopsies and 20 consecutive punch biopsies. In each case, the histology obtained at biopsy was compared with that identified at the time of tumour excision. Results A total of 40 consecutive biopsies on 38 patients were analysed. The first 20 were incisional; the second 20 were punch biopsies. Of the 20 incisional biopsy specimens, 19 were confirmed accurate at the time of excision of the lesion. Of the 20 punch biopsies, 17 were confirmed accurate at the time of excision. These correspond to accuracy rates of 95 and 85%, respectively. Conclusions Both incisional and punch biopsy techniques have relatively high accuracy rates and there is a high concordance between tissue diagnoses made by each of these techniques. Incisional techniques should preferably be performed on any atypical lesion. Punch biopsy is a quick and simple procedure. It is easy to perform in an outpatient environment and requires a minimum of surgical equipment and no specific surgical skills. If the site of biopsy is carefully chosen, this simple technique provides tissue specimens of adequate size and quality for accurate histology and is a most useful adjunct in the management of periocular tumours.

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Kevin Kane has written about the painting by Barbara Hepworth of Garnett Passe performing a tonsillectomy, and wondered about the way in which the gag appears to be suspended. This article traces historically the various methods of holding the gag for tonsillectomy, and postulates that what is illustrated in the Hepworth painting is a jack owned by the late Dr Sydney Cocks, who not only was a friend of Passe but who also commenced the discussions with Passe's widow, Barbara, concerning the formation by her of a trust to support young Australian ENT surgeons, which eventually became The Garnett Passe and Rodney Williams Memorial Foundation.

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